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Egbert Bakker

Showing results (41-50 of 52) with videos related to

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The American Journal of Pathology|September 4, 2010
No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromasChristianne M A Reijnders, Cathelijn J F Waaijer, Andrew Hamilton, et al.
Peerj|May 3, 2013
Phenotypic characterization of patients with deletions in the 3'-flanking SHOX regionSarina G Kant, Sander J Broekman, Caroline C de Wit, et al.
European Journal of Human Genetics : EJHG|May 14, 2009
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays firstAntoinet C J Gijsbers, Janet Y K Lew, Cathy A J Bosch, et al.
Hormone Research in Paediatrics|March 2, 2016
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral DensitySabine E Hannema, Jan M Wit, Mieke E C A M Houdijk, et al.
Clinical Chemistry|January 27, 2012
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detectionJessica M E van den Oever, Sahila Balkassmi, E Joanne Verweij, et al.
Human Genetics|October 28, 2008
Identification of copy number variants associated with BPES-like phenotypesAntoinet C J Gijsbers, Barbara D'haene, Yvonne Hilhorst-Hofstee, et al.
Hormone Research in Paediatrics|October 11, 2014
Copy number variants in short children born small for gestational ageJan M Wit, Hermine A van Duyvenvoorde, Jan B van Klinken, et al.
Human Mutation|July 31, 2010
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2Emmelien Aten, Lisa C Brasz, Dorothea Bornholdt, et al.
Human Mutation|December 26, 2003
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patientsRobert M W Hofstra, Inge M Mulder, Rolf Vossen, et al.
Genetics and Molecular Biology|July 26, 2018
Development of a comprehensive noninvasive prenatal testCarolina Malcher, Guilherme L Yamamoto, Philip Burnham, et al.
Pageof 6

Showing results (41-50 of 52) with videos related to

Sort By:
Pageof 6
The American Journal of Pathology|September 4, 2010
No haploinsufficiency but loss of heterozygosity for EXT in multiple osteochondromasChristianne M A Reijnders, Cathelijn J F Waaijer, Andrew Hamilton, et al.
Peerj|May 3, 2013
Phenotypic characterization of patients with deletions in the 3'-flanking SHOX regionSarina G Kant, Sander J Broekman, Caroline C de Wit, et al.
European Journal of Human Genetics : EJHG|May 14, 2009
A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays firstAntoinet C J Gijsbers, Janet Y K Lew, Cathy A J Bosch, et al.
Hormone Research in Paediatrics|March 2, 2016
Novel Leptin Receptor Mutations Identified in Two Girls with Severe Obesity Are Associated with Increased Bone Mineral DensitySabine E Hannema, Jan M Wit, Mieke E C A M Houdijk, et al.
Clinical Chemistry|January 27, 2012
Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detectionJessica M E van den Oever, Sahila Balkassmi, E Joanne Verweij, et al.
Human Genetics|October 28, 2008
Identification of copy number variants associated with BPES-like phenotypesAntoinet C J Gijsbers, Barbara D'haene, Yvonne Hilhorst-Hofstee, et al.
Hormone Research in Paediatrics|October 11, 2014
Copy number variants in short children born small for gestational ageJan M Wit, Hermine A van Duyvenvoorde, Jan B van Klinken, et al.
Human Mutation|July 31, 2010
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2Emmelien Aten, Lisa C Brasz, Dorothea Bornholdt, et al.
Human Mutation|December 26, 2003
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patientsRobert M W Hofstra, Inge M Mulder, Rolf Vossen, et al.
Genetics and Molecular Biology|July 26, 2018
Development of a comprehensive noninvasive prenatal testCarolina Malcher, Guilherme L Yamamoto, Philip Burnham, et al.
Pageof 6